Canonical Allele Identifier: CA363264183

Gene: CDKAL1

Linked Data

• dbSNP Id: rs1485843331
• gnomAD v2: 6-20546706-A-G
• gnomAD v3: 6-20546475-A-G
• gnomAD v4: 6-20546475-A-G
• MyVariant Identifiers: chr6:g.20546706A>G (hg19) ; chr6:g.20546475A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.20546475A>G , CM000668.2:g.20546475A>G	GRCh38
NC_000006.11:g.20546706A>G , CM000668.1:g.20546706A>G	GRCh37
NC_000006.10:g.20654685A>G	NCBI36
NG_021195.1:g.17019A>G
NG_021195.2:g.17019A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000274695.8:c.125A>G MANE Select	ENSP00000274695.4:p.Asn42Ser
ENST00000378610.1:c.125A>G	ENSP00000367873.1:p.Asn42Ser
ENST00000613575.4:c.125A>G	ENSP00000481755.1:p.Asn42Ser
NM_017774.3:c.125A>G MANE Select	NP_060244.2:p.Asn42Ser
XM_006715128.2:c.125A>G	XP_006715191.1:p.Asn42Ser
XM_011514718.1:c.125A>G	XP_011513020.1:p.Asn42Ser
XM_011514719.1:c.125A>G	XP_011513021.1:p.Asn42Ser
XR_926265.1:n.292A>G
XR_926266.1:n.405A>G
XR_926267.1:n.292A>G
XM_011514719.2:c.125A>G	XP_011513021.1:p.Asn42Ser
XM_017010986.1:c.125A>G	XP_016866475.1:p.Asn42Ser
XM_017010987.1:c.-630A>G	XP_016866476.1:n.-630A>G
XM_024446481.1:c.125A>G	XP_024302249.1:p.Asn42Ser
XR_001743495.2:n.297A>G
XR_001743496.2:n.692A>G
XR_001743500.1:n.292A>G
XR_001743501.1:n.292A>G
XR_926265.2:n.292A>G
XR_926266.2:n.405A>G
XR_926267.2:n.292A>G